WormBase Tree Display for Variation: WBVar00143762

WBVar00143762 Evidence: Paper_evidence: WBPaper00045066
  Name: Public_name: e1122
    Other_name: CE32078:p.Gln482Ter
      CE22238:p.Gln482Ter
      Y49E10.23a.1:c.1444C>T
      Y49E10.23b.1:c.1444C>T
    HGVSg: CHROMOSOME_III:g.12479881C>T
  Sequence_details: SMap: S_parent: Sequence: Y49E10
    Flanking_sequences: aagcacaaatctctttatttttcagtggaa aaacagaagctaagcttgcagaagagaaga
    Mapping_target: Y49E10
    Type_of_mutation: Substitution: c t Paper_evidence: WBPaper00045066
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00004247
    Laboratory: CB
    Status: Live
  Affects: Gene: WBGene00013042
    Transcript: Y49E10.23b.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: Y49E10.23b.1:c.1444C>T
        HGVSp: CE32078:p.Gln482Ter
        cDNA_position: 1511
        CDS_position: 1444
        Protein_position: 482
        Exon_number: 10/16
        Codon_change: Caa/Taa
        Amino_acid_change: Q/*
      Y49E10.23a.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: Y49E10.23a.1:c.1444C>T
        HGVSp: CE22238:p.Gln482Ter
        cDNA_position: 1505
        CDS_position: 1444
        Protein_position: 482
        Exon_number: 10/15
        Codon_change: Caa/Taa
        Amino_acid_change: Q/*
  Genetics: Interpolated_map_position: III 17.952
    Mapping_data: In_2_point: 90
      In_multi_point: 89
  Description: Phenotype: WBPhenotype:0000643 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: slightly irregular movement. Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        Ease_of_scoring: ES1_Very_hard_to_score: Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
  Reference: WBPaper00045066
  Method: Substitution_allele